Elise Fiala

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

Elise Fiala, Gowtham Jayakumaran, Audrey Mauguen et al. · Nature Cancer · 2021 · 156 citations · Full text

Tumoral Pathology, Medicine, Cancer Management +5

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 119 citations · Full text

Bioinformatics, Mendelian Disorder, Medical Genetics Expertise +11

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

Neerav Shukla, Max F. Levine, Gunes Gundem et al. · Nature Communications · 2022 · 74 citations · Full text